A5066418379- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Neurogenesis and neuroplasticity mechanisms
- Genetics, Aging, and Longevity in Model Organisms
- Ubiquitin and proteasome pathways
- Nerve injury and regeneration
- Zebrafish Biomedical Research Applications
- Machine Learning in Bioinformatics
- Circadian rhythm and melatonin
- GABA and Rice Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Lipid metabolism and biosynthesis
- Biomedical Text Mining and Ontologies
- Sleep and Wakefulness Research
- Cellular transport and secretion
- Bioinformatics and Genomic Networks
- Cardiomyopathy and Myosin Studies
- Insect Resistance and Genetics
University of Lausanne
2018-2024
KU Leuven
2020-2023
University of Rome Tor Vergata
2019
VIB-KU Leuven Center for Brain & Disease Research
2018
Pseudouridine (Ψ) is a prevalent RNA modification found in multiple species. It deposited by Ψ synthases (Pus) and it can stabilize structures. Patients carrying alterations the Pus7 gene suffer from developmental delay, intellectual disability, microcephaly, hyperactivity increased aggression levels. Here we show that mutation human patient cells Drosophila model associated with specific decrease of tRNA:Aspartate (tRNA-Asp) levels, which leads to slow decoding at Aspartate codons. This...
Abstract Sleep behavior is conserved throughout evolution, and sleep disturbances are a frequent comorbidity of neuropsychiatric disorders. However, the molecular basis underlying dysfunctions in neurological diseases remains elusive. Using model for neurodevelopmental disorders (NDDs), Drosophila Cytoplasmic FMR1 interacting protein haploinsufficiency ( Cyfip 85.1/ + ), we identify mechanism modulating homeostasis. We show that increased activity sterol regulatory element-binding (SREBP)...
Neurons rely on mitochondrial energy metabolism for essential functions like neurogenesis, neurotransmission, and synaptic plasticity. Mitochondrial dysfunctions are associated with neurodevelopmental disorders including Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, which also presents motor skill deficits. However, precise role mitochondria in pathophysiology FXS remains largely unknown. Notably, previous studies have linked serotonergic system...